本文選題：Treacher + Collins綜合征�。� 參考：《臨床耳鼻咽喉頭頸外科雜志》2017年08期

【摘要】：目的:探討Treacher Collins綜合征(TCS)臨床診斷方法及佩戴軟帶和植入BAHA的療效。方法:TCS患者6例,聽(tīng)性腦干反應(yīng)(ABR)測(cè)試骨導(dǎo)閾值均小于25dBnHL,氣導(dǎo)閾值均大于45dBnHL。對(duì)其行Teber畸形評(píng)分及致病基因檢測(cè)。對(duì)于2歲以下患兒,應(yīng)用中文版嬰幼兒有意義聽(tīng)覺(jué)整合量表(IT-MAIS)評(píng)估其佩戴當(dāng)日、佩戴3個(gè)月及6個(gè)月后的聽(tīng)覺(jué)發(fā)育情況;對(duì)于2~6歲患兒,通過(guò)行為測(cè)聽(tīng)測(cè)量并比較患者裸耳及佩戴BAHA后的聽(tīng)閾;對(duì)于6歲以上患者,在聲場(chǎng)下評(píng)估并比較裸耳及佩戴BAHA后的聽(tīng)閾及言語(yǔ)識(shí)別率。結(jié)果:Teber畸形評(píng)分平均值為(14.0±0.6)分,其中2例患者送檢均有TCOF1基因突變。ABR骨導(dǎo)反應(yīng)閾平均值為(18.0±4.5)dBnHL,氣導(dǎo)反應(yīng)閾平均值為(70.5±7.0)dBnHL。2例小于2歲患兒行IT-MAIS問(wèn)卷評(píng)估,其聽(tīng)覺(jué)發(fā)育均低于正常水平,佩戴軟帶BAHA 3個(gè)月及6個(gè)月后IT-MAIS評(píng)分顯著提高,且逐漸接近正常水平。6例患者裸耳和佩戴軟帶BAHA聲場(chǎng)測(cè)聽(tīng)聽(tīng)閾分別為(65.8±3.8)dBHL和(30.0±3.2)dBHL(P0.01),其中1例佩戴植入BAHA后聽(tīng)閾為15dBHL。3例大于6歲患者裸耳及佩戴軟帶BAHA雙音節(jié)言語(yǔ)識(shí)別率分別為(31.7±3.5)%和(86.0±1.7)%(P0.05),其中1例佩戴植入BAHA后言語(yǔ)識(shí)別率為96%。結(jié)論:TCS患者可以依靠臨床表型及基因檢測(cè)進(jìn)行診斷,BAHA可提高TCS患者聽(tīng)力及言語(yǔ)識(shí)別率,早期佩戴軟帶BAHA可促進(jìn)TCS患者聽(tīng)覺(jué)發(fā)育。
[Abstract]:Objective: to investigate the clinical diagnosis of Treacher Collins syndrome and the effect of wearing soft band and BAHA implantation.Methods in 6 patients with TCS, auditory brainstem response (ABR) test showed that the bone conductance threshold was less than 25dBnHLand the air-conduction threshold was higher than 45dBnHL.Teber malformation score and pathogenicity gene were detected.For children under 2 years of age, the hearing development of children under 2 years of age was evaluated by using the meaningful auditory Integration scale (IT-MAISL) of the Chinese version, and the hearing development of the children aged 2 to 6 years was evaluated on the same day, 3 months and 6 months after wearing.The threshold of bare ear and BAHA were measured and compared by behavioral audiometry, and the hearing threshold and speech recognition rate of bare ear and BAHA were evaluated and compared under the sound field for patients over 6 years old.Results the average score of TCOF1 malformation score was 14.0 鹵0.6). The mean value of TCOF1 gene mutation and bone conductance response threshold was 18.0 鹵4.5 dBnHL. the mean of air-conduction response threshold was 70.5 鹵7.0)dBnHL.2, and the IT-MAIS questionnaire was performed in all patients. The auditory development was lower than normal level.After 3 and 6 months of wearing soft band BAHA, the IT-MAIS score was significantly improved.The hearing threshold of bare ear and soft band BAHA were 65.8 鹵3.8)dBHL and 30.0 鹵3.2dBHLP0.01g respectively, and the threshold after BAHA implantation in 1 case was 15dBHL.3 higher than that in 6 years old patients with bare ear and soft band BAHA.It was 31.7 鹵3.5% and 86.0 鹵1.7%, respectively. The speech recognition rate of one case after BAHA implantation was 96. 05%.Conclusion the clinical phenotype and gene detection can improve the hearing and speech recognition rate of TCS patients. Early wearing soft band BAHA can promote the auditory development of TCS patients.
【作者單位】： 中國(guó)醫(yī)學(xué)科學(xué)院北京協(xié)和醫(yī)學(xué)院北京協(xié)和醫(yī)院耳鼻咽喉科;
【基金】：國(guó)家重點(diǎn)研發(fā)計(jì)劃(No:2016YFC0901501)
【分類(lèi)號(hào)】：R764;R596
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本文編號(hào)：1764531